HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88727053G>C , CM000678.2:g.88727053G>C | GRCh38 |
NC_000016.9:g.88793461G>C , CM000678.1:g.88793461G>C | GRCh37 |
NC_000016.8:g.87320962G>C | NCBI36 |
NG_042229.1:g.63168C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301015.14:c.3441C>G MANE Select | ENSP00000301015.9:p.Asn1147Lys | |
ENST00000301015.13:c.3441C>G | ENSP00000301015.9:p.Asn1147Lys | |
NM_001142864.2:c.3441C>G | NP_001136336.2:p.Asn1147Lys | |
NM_001142864.3:c.3441C>G | NP_001136336.2:p.Asn1147Lys | |
NM_001142864.4:c.3441C>G MANE Select | NP_001136336.2:p.Asn1147Lys |